• Ye Bi, Ming-Yang Kuang, and Ming-Long Li.
• Department of Geriatric Endocrinology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
• Medicine (Baltimore). 2023 Sep 1; 102 (35): e34967e34967.

RationaleThe diagnosis of Gentleman syndrome (GS) is usually delayed because the clinical symptoms are easily mistaken.Patient ConcernsA 19-year-old male patient was referred to endocrinology due to intermittent twitch of extremities for approximately 7 years.DiagnosesThe diagnosis of GS was made based on the laboratory and gene detection results. We identified 2 new variants in the SLC12A3 gene [c.857 A > C (exon7) and c.2089_2095del (exon17)] in his Asian family.InterventionsThe patient received the treatment of potassium chloride sustained release tablets, potassium magnesium aspartate and spironolactone. After given potassium supplement through enema, his serum potassium level was corrected to normal.OutcomesThe electrolyte imbalance including hypokalemia and hypomagnesemia were improved with a remission of the clinical manifestations. But the patient's condition still could not remain stable for his irregular oral potassium supplementation during the follow-up of nearly 3 months.LessonsOur finding broadens the variant spectrum of SLC12A3 and contributes to a more quickly genetic counseling. As a result, when a patient presents with persistent, unspecified, and inadequately treated hypokalemia, tests for GS should indeed be considered. For suspected cases of GS, genetic testing should always be considered in the diagnosis.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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